|||||
X-gebonden distale arthrogryposis multiplex congenita (aandoening)
X-gebonden distale arthrogryposis multiplex congenita
SMAX2
AMCX1
X-gebonden spinale musculaire atrofie type 2
spinale spieratrofie met artrogrypose
X-linked distal arthrogryposis multiplex congenita
Spinal muscular atrophy with arthrogryposis
X-linked spinal muscular atrophy type 2
A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Id719836007
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified